ArticleAmerican journal of human genetics1999
High frequency of large intragenic deletions in the Fanconi anemia group A gene.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 138 citations in OpenAlex.
- Fanconi Anemia: Interplay Between DNA Repair Defects, Mitochondrial Dysfunction, and Oxidative Stress.Cells · 2026Review
- DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.Journal, genetic engineering & biotechnology · 2024Article
- Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.Orphanet journal of rare diseases · 2022Article
- Review
- A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A.Metabolites · 2021Article
- Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency.Human genetics · 2021Article
- Structure of the FA core ubiquitin ligase closing the ID clamp on DNA.Nature structural & molecular biology · 2021Article
- Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.Haematologica · 2021Article
- Article
- Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex.Nucleic acids research · 2020Article
- sRNA/L1 retrotransposition: using siRNAs and miRNAs to expand the applications of the cell culture-based LINE-1 retrotransposition assay.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
- Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA-VPS9D1 fusion transcripts in a Fanconi anemia patient.Journal of human genetics · 2019Article
- Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.NPJ genomic medicine · 2019Article
- Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.Haematologica · 2018Article
- A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Human mutation · 2018Article
- The clinical impact of copy number variants in inherited bone marrow failure syndromes.NPJ genomic medicine · 2017Article
- Investigation of FANCA gene in Fanconi anaemia patients in Iran.The Indian journal of medical research · 2016Article
- FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.PloS one · 2016Article
- Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.Molecular genetics & genomic medicine · 2015Article
- AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.Human molecular genetics · 2015Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Fanconi anemia (FA) is an autosomal recessive disorder exhibiting chromosomal fragility, bone-marrow failure, congenital abnormalities, and cancer. At least eight complementation groups have been described, with group A accounting for 60%-65% of FA patients. Mutation screening of the group A gene (FANCA) is complicated by its highly interrupted genomic structure and heterogeneous mutation spectrum. Recent reports of several large deletions of FANCA, coupled with modest mutation-detection rates, led us to investigate whether many deletions might occur in the heterozygous state and thus fail to be detected by current screening protocols. We used a two-step screening strategy, in which small mutations were detected by fluorescent chemical cleavage of the FANCA transcript, and heterozygosity for gross deletions was detected by quantitative fluorescent multiplex PCR. We screened 26 cell lines from FA complementation group A for FANCA mutations and detected 33 different mutations, 23 of which were novel. Mutations were observed in all 26 cell lines and included 43 of a possible 52 mutant alleles (83%). Of the mutant alleles, 40% were large intragenic deletions that removed up to 31 exons from the gene, indicating that this may be the most prevalent form of mutation in FANCA. Several common deletion breakpoints were observed, and there was a highly significant correlation between the number of breakpoints detected in a given intron and the number of Alu repeats that it contained, which suggests that Alu-mediated recombination may explain the high prevalence of deletions in FANCA. The dual screening strategy that we describe may be useful for mutation screening in other genetic disorders in which mutation-detection rates are unexpectedly low.
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